ClinVar Miner

Submissions for variant NM_001242897.2(DEPDC5):c.280-1G>A (rs1556526609)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000642490 SCV000764173 pathogenic Familial focal epilepsy with variable foci 2019-09-04 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 5 of the DEPDC5 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individuals affected with clinical features of autosomal dominant nocturnal frontal lobe epilepsy (Invitae). ClinVar contains an entry for this variant (Variation ID: 534798). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. Donor and acceptor splice site variants typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in DEPDC5 are known to be pathogenic (PMID: 23542697, 23542701). For these reasons, this variant has been classified as Pathogenic.

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